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Article

[Clinical sequelae of mutation of the CBP gene].

Casopis lekaru ceskych - 13 Dec 1999

Smardová J, Smarda J

Abstract excerpt

Gene CBP codes for a transcriptional coactivator, which can interact with many transcriptional factors. It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease called Rubinstein-Taybi syndrome that is manifested by mental and growth...

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Source

Identifiers

PMID: 10746038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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[Clinical sequelae of mutation of the CBP gene].PMID 10746038Read ↗

MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3)Semantic proximity Read ↗

Molecular analysis of the <i>CBP</i> gene in 60 patients with Rubinstein-Taybi syndromeSemantic proximity Read ↗

[Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].Semantic proximity Read ↗

Epigenetic mechanisms of Rubinstein-Taybi syndrome.Semantic proximity Read ↗

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A microduplication of CBP in a patient with mental retardation and a congenital heart defect.Semantic proximity Read ↗

The t(11;16)(q23;p13) Translocation in Myelodysplastic Syndrome Fuses the MLL Gene to the CBP GeneSemantic proximity Read ↗

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.Semantic proximity Read ↗

[Gain-of-function mutation of c-CBL tumor suppressor gene in myeloid neoplasms].Semantic proximity Read ↗

Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.Semantic proximity Read ↗

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.Semantic proximity Read ↗

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